Varaico: Literature-Extracted Genetic Variants

NR5A1

619 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or w...

Pfam Domains

zf-C4aa 11–80UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 251–442UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 5 group A member 1

HGNC Previous Symbol

FTZF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004959.5

p.P205fs

c.613_614fs

Surrounding Variants

2 papers

NM_004959.5

p.P205insFs

c.614_615insG

7 papers

NM_004959.5

p.P205insFs

c.614_615insC

5 papers

NM_004959.5

p.Q206fs

c.616_617fs

1 paper

NM_004959.5

p.P204S

c.610C>T

1 paper

NM_004959.5

p.P205insFs

c.615dupA

1 paper

NM_004959.5

p.Q206fs

c.616_617fs

2 papers

NM_004959.5

p.Y201*

c.603T>G

2 papers

NM_004959.5

p.Y201*

c.603T>A

1 paper

NM_004959.5

p.G208fs

c.622_623fs

2 papers

NM_004959.5

p.G208G

c.624G>C

2 papers

NM_004959.5

p.L209fs

c.625_626fs

1 paper

NM_004959.5

p.L209L

c.625C>T